Canonical Allele Identifier: CA7452366
Community Standard Title: NM_001252024.2(TRPM1):c.1905C>T (p.His635=)
Gene: TRPM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31042133G>A , CM000677.2:g.31042133G>A GRCh38
NC_000015.9:g.31334336G>A , CM000677.1:g.31334336G>A GRCh37
NC_000015.8:g.29121628G>A NCBI36
NG_016453.1:g.64589C>T
NG_016453.2:g.124141C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001252024.2:c.1905C>T MANE Select NP_001238953.1:p.His635=
ENST00000256552.11:c.1905C>T MANE Select ENSP00000256552.7:p.His635=
NM_001252020.1:c.1956C>T NP_001238949.1:p.His652=
NM_001252020.2:c.1956C>T NP_001238949.1:p.His652=
NM_001252024.1:c.1905C>T NP_001238953.1:p.His635=
NM_002420.5:c.1839C>T NP_002411.3:p.His613=
NM_002420.6:c.1839C>T NP_002411.3:p.His613=
ENST00000256552.10:c.1905C>T ENSP00000256552.6:p.His635=
ENST00000397795.6:c.1839C>T ENSP00000380897.2:p.His613=
ENST00000397795.7:c.1839C>T ENSP00000380897.2:p.His613=
ENST00000542188.5:c.1956C>T ENSP00000437849.1:p.His652=
ENST00000558445.5:c.1839C>T ENSP00000452946.1:p.His613=
ENST00000558445.6:c.1956C>T ENSP00000452946.2:p.His652=
ENST00000558768.5:c.1608C>T ENSP00000453119.2:p.His536=
ENST00000559177.5:c.428-13657C>T ENSP00000453477.1:n.428-13657C>T
ENST00000559177.6:c.545-13657C>T ENSP00000453477.2:n.545-13657C>T
ENST00000560801.5:c.1656C>T ENSP00000453644.2:n.1656C>T
ENST00000711434.1:c.1839C>T ENSP00000518752.1:p.His613=